Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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 Data management
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| Patient ID |
337 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
5 Day(s) |
| Age of diagnosis |
3.43 Week(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
The fifth child of consanguineous healthy Turkish parents was born after normal pregnancy. On his fifth day of life, he was admitted to hospital with growing hypotonia, seizures and finally respiratory insufficiency. Highly increased levels of leucine and isoleucine in serum led to the diagnosis of maple syrup urine disease. Because of peritoneal dialysis and glucose-insulin therapy, leucine level could be reduced. Protein-restricted diet and physiotherapy were initiated.
Because of a tetraplegia, especially of the legs, the boy is severely handicapped in his movement. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-09-13 15:22:00 |
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